Aliases for ANKH Gene
External Ids for ANKH Gene
Previous HGNC Symbols for ANKH Gene
Previous GeneCards Identifiers for ANKH Gene
This gene encodes a multipass transmembrane protein that is expressed in joints and other tissues and controls pyrophosphate levels in cultured cells. Progressive ankylosis-mediated control of pyrophosphate levels has been suggested as a possible mechanism regulating tissue calcification and susceptibility to arthritis in higher animals. Mutations in this gene have been associated with autosomal dominant craniometaphyseal dysplasia. [provided by RefSeq, Jul 2008]
GeneCards Summary for ANKH Gene
ANKH (ANKH Inorganic Pyrophosphate Transport Regulator) is a Protein Coding gene. Diseases associated with ANKH include craniometaphyseal dysplasia and chondrocalcinosis 2. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Miscellaneous transport and binding events. GO annotations related to this gene include inorganic phosphate transmembrane transporter activity and inorganic diphosphate transmembrane transporter activity.
UniProtKB/Swiss-Prot for ANKH Gene
Regulates intra- and extracellular levels of inorganic pyrophosphate (PPi), probably functioning as PPi transporter.